Overview
16p12.1p12.3 triplication syndrome is a very rare chromosomal condition caused by having an extra copy (three copies instead of the usual two) of a small segment on chromosome 16. This extra genetic material affects how the brain and body develop. The condition is also sometimes referred to as a 'copy number variant' or 'chromosomal triplication' of the 16p12.1p12.3 region. Because this region contains several important genes, having too many copies disrupts normal development in multiple ways. The most common effects involve the brain and nervous system. Many people with this condition have intellectual disability, meaning they may learn more slowly than their peers. Delays in speech and language are very common, and some individuals are diagnosed with autism spectrum disorder or have behavioral challenges. Some people also have physical features such as differences in facial appearance, heart defects present at birth, or problems with muscle tone. There is currently no cure for 16p12.1p12.3 triplication syndrome. Treatment focuses on managing symptoms and supporting development. This typically includes speech therapy, occupational therapy, physical therapy, special education services, and medications to manage seizures or behavioral symptoms if needed. Early intervention is considered very important for improving long-term outcomes.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesDelayed speech and language developmentAutism spectrum disorder or autistic featuresBehavioral problems such as hyperactivity or aggressionLow muscle tone (floppiness) in infancySeizures or epilepsyCongenital heart defectsDistinctive facial featuresDelayed motor milestones such as sitting or walking lateFeeding difficulties in infancy
Clinical phenotype terms (44)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for 16p12.1p12.3 triplication syndrome.
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Specialists
View all specialists →No specialists are currently listed for 16p12.1p12.3 triplication syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to 16p12.1p12.3 triplication syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific genes are affected by the triplication in my child, and what does that mean for their health?,Should other family members be tested to see if they carry this chromosomal change?,What therapies should we start right away, and how often should my child receive them?,Does my child need a heart evaluation, and how often should that be repeated?,What signs of seizures should I watch for, and what should I do if one happens?,Are there any clinical trials or research studies we could participate in?,What educational supports should we ask for at school?
Common questions about 16p12.1p12.3 triplication syndrome
What is 16p12.1p12.3 triplication syndrome?
16p12.1p12.3 triplication syndrome is a very rare chromosomal condition caused by having an extra copy (three copies instead of the usual two) of a small segment on chromosome 16. This extra genetic material affects how the brain and body develop. The condition is also sometimes referred to as a 'copy number variant' or 'chromosomal triplication' of the 16p12.1p12.3 region. Because this region contains several important genes, having too many copies disrupts normal development in multiple ways. The most common effects involve the brain and nervous system. Many people with this condition have
At what age does 16p12.1p12.3 triplication syndrome typically begin?
Typical onset of 16p12.1p12.3 triplication syndrome is infantile. Age of onset can vary across affected individuals.